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المؤلفون: Cecilia Anichini, Katrin Rademacher, Flavia Cerrato, Jasmin Beygo, Margherita Silengo, Andrea Riccio, Bernhard Horsthemke, Thorsten Enklaar, Karin Buiting, Angela Sparago, Maria Vittoria Cubellis, Andrea Guala, Dirk Prawitt, Notker Graf, Agostina De Crescenzo, Valentina Citro, Melanie Heitmann
المساهمون: Beygo, J, Citro, V, Sparago, A, De Crescenzo, A, Cerrato, Flavia, Heitmann, M, Rademacher, K, Guala, A, Enklaar T., Anichini C, Cirillo Silengo, M, Graf, N, Prawitt, D, Cubellis, Mv, Horstemke, B, Buiting, K, Riccio, Andrea, J., Beygo, V., Citro, A., Sparago, A., De Crescenzo, F., Cerrato, M., Heitmann, K., Rademacher, A., Guala, T., Enklaar, C., Anichini, M. C., Silengo, N., Graf, D., Prawitt, Cubellis, MARIA VITTORIA, B., Horstemke, K., Buiting, A., Riccio
المصدر: Human molecular genetics
22(3) (2013): 544–557. doi:10.1093/hmg/dds465
info:cnr-pdr/source/autori:Beygo J, Citro V, Sparago A, De Crescenzo A, Cerrato F, Heitmann M, Rademacher K, Guala A, Enklaar T, Anichini C, Cirillo Silengo M, Graf N, Prawitt D, Cubellis MV, Horsthemke B, Buiting K, Riccio A./titolo:The molecular function and clinical phenotype of partial deletions of the IGF2%2FH19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites/doi:10.1093%2Fhmg%2Fdds465/rivista:Human molecular genetics (Print)/anno:2013/pagina_da:544/pagina_a:557/intervallo_pagine:544–557/volume:22(3)
Human Molecular Geneticsمصطلحات موضوعية: CCCTC-Binding Factor, Chromatin Immunoprecipitation, Medizin, Biology, Genomic Imprinting, Insulin-Like Growth Factor II, Genetics, Humans, Gene Silencing, Allele, Enhancer, Molecular Biology, Gene, Genetics (clinical), Alleles, Cells, Cultured, Binding Sites, Chromosomes, Human, Pair 11, General Medicine, Methylation, Sequence Analysis, DNA, Articles, DNA Methylation, Penetrance, Phenotype, Pedigree, Repressor Proteins, Gene Expression Regulation, CTCF, Genetic Loci, DNA methylation, RNA, Long Noncoding, Gene Deletion
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc68c41f6160eb6b91717145212bb5fa
http://hdl.handle.net/11591/187142 -
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المؤلفون: Manfred Stuhrmann, Thilo Dörk, Notker Graf, Jörg Schmidtke
المصدر: European journal of pediatrics. 159
مصطلحات موضوعية: medicine.medical_specialty, Candidate gene, Pathology, Cystic Fibrosis, DNA Mutational Analysis, Cystic fibrosis, Gastroenterology, Internal medicine, Prenatal Diagnosis, medicine, Mutation screening, Presymptomatic Testing, Humans, Genetic Testing, Age of Onset, Genetic testing, Informed Consent, medicine.diagnostic_test, Specific mutation, business.industry, Middle Aged, medicine.disease, Organ damage, Pediatrics, Perinatology and Child Health, Mutation testing, Hemochromatosis, business